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European Journal of Human Genetics: EJHG

Lukas Soellner, Florian Kraft, Sabrina Sauer, Matthias Begemann, Ingo Kurth, Miriam Elbracht, Thomas Eggermann
Silver-Russell syndrome is an imprinting disorder characterized by severe intrauterine and postnatal growth retardation. The majority of patients show loss of methylation (LOM) of the H19/IGF2 IG-DMR (ICR1) in 11p15.5. In ~10% of these patients aberrant methylation of additional imprinted loci on other chromosomes than 11 can be observed (multilocus imprinting defect - MLID). Recently, genomic variations in the ICR1 have been associated with disturbed methylation of the ICR1. In addition, variants in factors contributing to the life cycle of imprinting are discussed to cause aberrant imprinting, including MLID...
September 14, 2018: European Journal of Human Genetics: EJHG
Matthias Munz, Gesa M Richter, Bruno G Loos, Søren Jepsen, Kimon Divaris, Steven Offenbacher, Alexander Teumer, Birte Holtfreter, Thomas Kocher, Corinna Bruckmann, Yvonne Jockel-Schneider, Christian Graetz, Ilyas Ahmad, Ingmar Staufenbiel, Nathalie van der Velde, André G Uitterlinden, Lisette C P G M de Groot, Jürgen Wellmann, Klaus Berger, Bastian Krone, Per Hoffmann, Matthias Laudes, Wolfgang Lieb, Andre Franke, Jeanette Erdmann, Henrik Dommisch, Arne S Schaefer
Periodontitis is one of the most common inflammatory diseases, with a prevalence of 11% worldwide for the severe forms and an estimated heritability of 50%. It is classified into the widespread moderate form chronic periodontitis (CP) and the rare early-onset and severe phenotype aggressive periodontitis (AgP). These different disease manifestations are thought to share risk alleles and predisposing environmental factors. To obtain novel insights into the shared genetic etiology and the underlying molecular mechanisms of both forms, we performed a two step-wise meta-analysis approach using genome-wide association studies of both phenotypes...
September 14, 2018: European Journal of Human Genetics: EJHG
Andréanne Morin, Anne-Marie Madore, Tony Kwan, Maria Ban, Jukka Partanen, Lars Rönnblom, Ann-Christine Syvänen, Stephen Sawcer, Hendrik Stunnenberg, Mark Lathrop, Tomi Pastinen, Catherine Laprise
The Saguenay-Lac-Saint-Jean (SLSJ) region is located in northeastern Quebec and is known for its unique demographic history and founder effect. As founder populations are enriched with population-specific variants, we characterized the variants distribution in SLSJ and compared it with four European populations (Finnish, Sweden, United Kingdom and France), of which the Finnish population is another founder population. Targeted sequencing of the coding and non-coding immune regulatory regions of the SLSJ asthma familial cohort and the four European populations were performed...
September 11, 2018: European Journal of Human Genetics: EJHG
Xumin Ni, Kai Yuan, Chang Liu, Qidi Feng, Lei Tian, Zhiming Ma, Shuhua Xu
Our goal in developing the MultiWaver software series was to be able to infer population admixture history under various complex scenarios. The earlier version of MultiWaver considered only discrete admixture models. Here, we report a newly developed version, MultiWaver 2.0, that implements a more flexible framework and is capable of inferring multiple-wave admixture histories under both discrete and continuous admixture models. MultiWaver 2.0 can automatically select an optimal admixture model based on the length distribution of ancestral tracks of chromosomes, and the program can estimate the corresponding parameters under the selected model...
September 11, 2018: European Journal of Human Genetics: EJHG
Laïla Allach El Khattabi, Stéphanie Backer, Amélie Pinard, Marie-Noëlle Dieudonné, Vassilis Tsatsaris, Daniel Vaiman, Luisa Dandolo, Evelyne Bloch-Gallego, Hélène Jammes, Sandrine Barbaux
We identified, through a genome-wide search for new imprinted genes in the human placenta, DSCAM (Down Syndrome Cellular Adhesion Molecule) as a paternally expressed imprinted gene. Our work revealed the presence of a Differentially Methylated Region (DMR), located within intron 1 that might regulate the imprinting in the region. This DMR showed a maternal allele methylation, compatible with its paternal expression. We showed that DSCAM is present in endothelial cells and the syncytiotrophoblast layer of the human placenta...
September 11, 2018: European Journal of Human Genetics: EJHG
Tatiane Yanes, Amanda M Willis, Bettina Meiser, Katherine M Tucker, Megan Best
Psychosocial and behavioral outcomes of genetic testing in oncology are well known, however, it is unclear how these findings will generalize to more complex genomic testing. The aim of this systematic review was to assess the psychosocial and behavioral outcomes of cancer genomic testing. Studies were selected for inclusion if they were published from January 2003 to January 2017 and addressed psychological and behavioral outcomes of cancer genomic testing in adults. A review of four databases identified 9620 abstracts, with 22 publications meeting the inclusion criteria...
September 11, 2018: European Journal of Human Genetics: EJHG
Adeline Bonnard, Ariane Herson, Marcela Gargiulo, Alexandra Durr
Predictive testing for Huntington disease (HD) in 25% at-risk individuals is testing with full knowledge, and sometimes assuming, that the parent does not want to know his status. The goal of this study was to understand: (1) the differences in the motivation between 25% and 50% at-risk individuals to be tested and (2) the consequences of "double disclosure", including parental reactions. Test requests from 25% at-risk individuals were rare (155/1611, 10%). We compared their motivation with those of 1456 50% at-risk individuals...
September 11, 2018: European Journal of Human Genetics: EJHG
Hafize Emine Sönmez, Ezgi Deniz Batu, Ekim Z Taşkıran, Mehmet Alikaşifoğlu, Yelda Bilginer, Seza Özen
No abstract text is available yet for this article.
September 11, 2018: European Journal of Human Genetics: EJHG
Mélanie Rama, Isabelle Touitou, Guillaume Sarrabay
No abstract text is available yet for this article.
September 11, 2018: European Journal of Human Genetics: EJHG
Takahiro Otani, Hisashi Noma, Shonosuke Sugasawa, Aya Kuchiba, Atsushi Goto, Taiki Yamaji, Yuta Kochi, Motoki Iwasaki, Shigeyuki Matsui, Tatsuhiko Tsunoda
Although the detection of predictive biomarkers is of particular importance for the development of accurate molecular diagnostics, conventional statistical analyses based on gene-by-treatment interaction tests lack sufficient statistical power for this purpose, especially in large-scale clinical genome-wide studies that require an adjustment for multiplicity of a huge number of tests. Here we demonstrate an alternative efficient multi-subgroup screening method using multidimensional hierarchical mixture models developed to overcome this issue, with application to stroke and breast cancer randomized clinical trials with genomic data...
September 10, 2018: European Journal of Human Genetics: EJHG
Dyah W Karjosukarso, Frans P M Cremers, C Erik van Nouhuys, Rob W J Collin
Familial exudative vitreoretinopathy (FEVR) is an inherited retinal disorder, which is primarily characterized by abnormal development of retinal vasculature. In this study, we reported a subject presenting the clinical features of FEVR as well as microcephaly. Screening of the KIF11 gene in this patient revealed a novel heterozygous protein-truncating variant (c.2717del, p.(L906*), NM_004523.3). Segregation analysis in the unaffected parents using Sanger sequencing suggested the variant to be present in a mosaic state in the unaffected mother...
September 4, 2018: European Journal of Human Genetics: EJHG
Anna Morgan, Dragana Vuckovic, Navaneethakrishnan Krishnamoorthy, Elisa Rubinato, Umberto Ambrosetti, Pierangela Castorina, Annamaria Franzè, Diego Vozzi, Martina La Bianca, Stefania Cappellani, Mariateresa Di Stazio, Paolo Gasparini, Giorgia Girotto
Hereditary hearing loss (HHL) and age-related hearing loss (ARHL) are two major sensory diseases affecting millions of people worldwide. Despite many efforts, additional HHL-genes and ARHL genetic risk factors still need to be identified. To fill this gap a large genomic screening based on next-generation sequencing technologies was performed. Whole exome sequencing in a 3-generation Italian HHL family and targeted re-sequencing in 464 ARHL patients were performed. We detected three variants in SPATC1L: a nonsense allele in an HHL family and a frameshift insertion and a missense variation in two unrelated ARHL patients...
September 3, 2018: European Journal of Human Genetics: EJHG
Martin Hergersberg
No abstract text is available yet for this article.
September 3, 2018: European Journal of Human Genetics: EJHG
Felix Grassmann, Christina Kiel, Anneke I den Hollander, Daniel E Weeks, Andrew Lotery, Valentina Cipriani, Bernhard H F Weber
Age-related macular degeneration (AMD) is the leading cause of blindness in industrialised countries, and thereby a major individual but also a socio-economic burden. Y chromosome loss in nucleated blood cells has been implicated in age-related diseases such as Alzheimer disease and was shown to be caused by increasing age, smoking and genetic factors. Mosaic loss of Y chromosome (mLOY) in peripheral blood was estimated from normalised dosages of genotyping chip data covering the male-specific region of the Y chromosome...
August 29, 2018: European Journal of Human Genetics: EJHG
Florence Petit, Francesca Minnai, Jacques Chiaroni, Peter A Underhill, Pascal Bailly, Stéphane Mazières, Caroline Costedoat
Red cell polymorphisms can provide evidence of human migration and adaptation patterns. In Eurasia, the distribution of Diego blood group system polymorphisms remains unaddressed. To shed light on the dispersal of the Dia antigen, we performed analyses of correlations between the frequencies of DI*01 allele, C2-M217 and C2-M401 Y-chromosome haplotypes ascribed as being of Mongolian-origin and language affiliations, in 75 Eurasian populations including DI*01 frequency data from the HGDP-CEPH panel. We revealed that DI*01 reaches its highest frequency in Mongolia, Turkmenistan and Kyrgyzstan, expanding southward and westward across Asia with Altaic-speaking nomadic carriers of C2-M217, and even more precisely C2-M401, from their homeland presumably in Mongolia, between the third century BCE and the thirteenth century CE...
August 24, 2018: European Journal of Human Genetics: EJHG
Neringa Jurkute, Anna Majander, Richard Bowman, Marcela Votruba, Stephen Abbs, James Acheson, Guy Lenaers, Patrizia Amati-Bonneau, Mariya Moosajee, Gavin Arno, Patrick Yu-Wai-Man
No abstract text is available yet for this article.
August 24, 2018: European Journal of Human Genetics: EJHG
Danya F Vears, Emilia Niemiec, Heidi Carmen Howard, Pascal Borry
There are several key unsolved issues relating to the clinical use of next generation sequencing, such as: should laboratories report variants of uncertain significance (VUS) to clinicians and/or patients? Should they reinterpret VUS in response to growing knowledge in the field? And should patients be recontacted regarding such results? We systematically analyzed 58 consent forms in English used in the diagnostic context to investigate their policies for (a) reporting VUS, (b) reinterpreting variants, including who should initiate this, and (c) recontacting patients and the mechanisms for undertaking any recontact...
August 24, 2018: European Journal of Human Genetics: EJHG
Nada Danial-Farran, Zippora Brownstein, Suleyman Gulsuner, Luna Tammer, Morad Khayat, Ola Aleme, Elena Chervinsky, Olfat Aboleile Zoubi, Tom Walsh, Gil Ast, Mary-Claire King, Karen B Avraham, Stavit A Shalev
For multiple generations, much of the Arab population of Northern Israel has lived in communities with consanguineous marriages and large families. These communities have been particularly cooperative and informative for understanding the genetics of recessive traits. We studied the genetics of hearing loss in this population, evaluating 168 families from 46 different villages. All families were screened for founder variants by Sanger sequencing and 13 families were further evaluated by sequencing all known genes for hearing loss using our targeted gene panel HEar-Seq...
August 23, 2018: European Journal of Human Genetics: EJHG
Danielle Veenma, Dawn Cordeiro, Neal Sondheimer, Saadet Mercimek-Andrews
Hyperphenylalaninemia, movement disorder, and intellectual disability due to variants in DNAJC12 is a recently reported inherited neurotransmitter disorder. We report two new patients with this new genetic disorder. Patient 1 is a 6-year-11-month-old boy with mild hyperphenylalaninemia and global developmental delay (GDD). Seventeen-year-old male sibling of patient 1 had GDD from the first year of life. He had mild hyperphenylalaninemia at 11.5 years of age following his younger brother's diagnosis. He had low levels of homovanillic acid and 5-hydroxyindolacetic acid in the cerebrospinal fluid...
August 23, 2018: European Journal of Human Genetics: EJHG
Mathilde Pacault, Marie Vincent, Thomas Besnard, Caroline Kannengiesser, Claire Bénéteau, Sébastien Barbarot, Xénia Latypova, Khaldia Belabbas, Antonin Lamazière, Norbert Winer, Madeleine Joubert, Stéphane Bézieau, Bertrand Isidor, Sandra Mercier, Mathilde Nizon, Stéphanie Leclerc-Mercier, Smail Hadj-Rabia, Fabienne Dufernez
X-linked dominant chondrodysplasia punctata (CDPX2 or Conradi-Hünermann-Happle syndrome, MIM #302960) is caused by mutations in the EBP gene. Affected female patients present with Blaschkolinear ichthyosis, coarse hair or alopecia, short stature, and normal psychomotor development. The disease is usually lethal in boys. Nevertheless, few male patients have been reported; they carry a somatic mosaicism in EBP or present with Klinefelter syndrome. Here, we report CDPX2 patients belonging to a three-generation family, carrying the splice variant c...
August 22, 2018: European Journal of Human Genetics: EJHG
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